Understanding Inclusion Body Myopathy, Paget's Disease, and Frontotemporal Dementia
Characterization of Familial Myopathy and Paget Disease of Bone
This study is trying to learn more about how changes in the VCP gene affect people with inherited muscle, bone, and brain conditions, by collecting health information and samples from families who have these issues.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | University of California, Irvine Academic / other |
| Locations | 1 site (Irvine, California) |
| Trial ID | NCT01353430 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on families with inherited inclusion body myopathy, Paget disease of bone, and frontotemporal dementia, collectively known as IBMPFD, which is linked to mutations in the VCP gene. Researchers aim to gather biological specimens, medical histories, and questionnaire data from participants who may have these conditions or a family history of them. The study will help elucidate how VCP gene mutations contribute to the associated muscle, bone, and cognitive issues. Some participants may be invited for additional testing at the University of California, Irvine, including MRI and bone scans.
Who should consider this trial
Good fit: Ideal candidates include individuals with muscle and bone disorders, as well as their family members, particularly those with a history of VCP-related diseases.
Not a fit: Patients without any symptoms or family history related to inclusion body myopathy, Paget disease, or frontotemporal dementia may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of IBMPFD and improve diagnosis and treatment options for affected individuals.
How similar studies have performed: While this study explores a specific genetic condition, similar studies have shown promise in understanding genetic links to complex diseases, indicating potential for success.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Inclusion criteria include all individuals with a combination of medical problems including muscle and bone disease and their family members. Because historically VCP related muscle disease has been erroneously diagnosed with the following diagnoses, therefore if these patients also have a personal or family history of bone disease they will be considered eligible for the study: Muscle disorders considered include: * Limb Girdle Muscular Dystrophy * Myopathy * Inclusion body myopathy * FSH (Facioscapular muscular dystrophy) without the mutation * Scapuloperoneal muscular dystrophy * Amyotrophic Lateral Sclerosis * Non specific muscular dystrophy AND * Bone disorders including: * Paget disease of bone * Fibrous dysplasia * Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) * Non-specific bone disease Eligible participants must also be: * Subjects must to 18 years or older * Subjects must to able to give consent * Adult family members or spouses over the age of 18 of the affected individuals Exclusion Criteria: * Under the age of 18. Individuals who report a different unrelated diagnosis will be excluded from the study. Testing to confirm different diagnoses will not be performed, instead patient will be questioned for this information and records will be obtained for confirmation of appropriate testing. Those who are unable to provide consent for themselves will be excluded from participating in the study.
Where this trial is running
Irvine, California
- University of California, Irvine — Irvine, California, United States (Recruiting)
Study contacts
- Principal investigator: Virginia Kimonis, MD — University of California, Irvine
- Study coordinator: Virginia Kimonis, MD
- Email: vkimonis@uci.edu
- Phone: 949 824 0571
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.